Details for: SMAD4

Gene ID: 4089

Symbol: SMAD4

Ensembl ID: ENSG00000141646

Description: SMAD family member 4

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 249.2523
    Cell Significance Index: -38.7700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 151.1965
    Cell Significance Index: -38.3500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 86.1429
    Cell Significance Index: -40.6700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 84.1093
    Cell Significance Index: -34.1700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 60.8177
    Cell Significance Index: -40.8100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 35.7897
    Cell Significance Index: -34.1700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 32.2396
    Cell Significance Index: -39.7500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.8757
    Cell Significance Index: -39.8500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 11.3464
    Cell Significance Index: -34.8500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.1304
    Cell Significance Index: -39.9800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.9360
    Cell Significance Index: -15.1800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 2.5614
    Cell Significance Index: 143.7300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.5489
    Cell Significance Index: 414.5600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.4930
    Cell Significance Index: 20.3700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.3905
    Cell Significance Index: 83.4800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.3254
    Cell Significance Index: 265.8700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1600
    Cell Significance Index: 1047.4200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.0358
    Cell Significance Index: 79.4900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.8242
    Cell Significance Index: 295.6100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7113
    Cell Significance Index: 20.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6596
    Cell Significance Index: 130.9100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5505
    Cell Significance Index: 67.6900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.5344
    Cell Significance Index: 14.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5214
    Cell Significance Index: 93.9900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5190
    Cell Significance Index: 31.9000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4816
    Cell Significance Index: 66.1400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4745
    Cell Significance Index: 10.2800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4714
    Cell Significance Index: 12.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3982
    Cell Significance Index: 217.4800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3805
    Cell Significance Index: 263.1900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3466
    Cell Significance Index: 153.2600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3420
    Cell Significance Index: 15.5000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3238
    Cell Significance Index: 8.1000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3055
    Cell Significance Index: 14.2500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2992
    Cell Significance Index: 56.9400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2552
    Cell Significance Index: 6.7100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2182
    Cell Significance Index: 9.6500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.2098
    Cell Significance Index: 4.4900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.2064
    Cell Significance Index: 10.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1981
    Cell Significance Index: 7.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1919
    Cell Significance Index: 18.9800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1766
    Cell Significance Index: 4.5400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1761
    Cell Significance Index: 8.2800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1754
    Cell Significance Index: 11.8000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1575
    Cell Significance Index: 26.9000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1524
    Cell Significance Index: 4.3700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1478
    Cell Significance Index: 9.5400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1446
    Cell Significance Index: 3.3400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0911
    Cell Significance Index: 1.5300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0854
    Cell Significance Index: 3.0000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0824
    Cell Significance Index: 4.2900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0768
    Cell Significance Index: 9.8500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0331
    Cell Significance Index: 15.0200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0318
    Cell Significance Index: 20.1800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0241
    Cell Significance Index: 45.4000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0054
    Cell Significance Index: 8.3100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0044
    Cell Significance Index: 8.1000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0095
    Cell Significance Index: -7.0600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0120
    Cell Significance Index: -8.7900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0186
    Cell Significance Index: -25.2800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0262
    Cell Significance Index: -1.6500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0311
    Cell Significance Index: -4.5200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0342
    Cell Significance Index: -25.8600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0347
    Cell Significance Index: -1.8100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0353
    Cell Significance Index: -22.0700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0363
    Cell Significance Index: -0.8700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0526
    Cell Significance Index: -29.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0762
    Cell Significance Index: -2.1300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0844
    Cell Significance Index: -0.5100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0901
    Cell Significance Index: -2.4200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0946
    Cell Significance Index: -19.9300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0984
    Cell Significance Index: -11.6000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1015
    Cell Significance Index: -13.1200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1058
    Cell Significance Index: -7.4800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1072
    Cell Significance Index: -10.9500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1146
    Cell Significance Index: -13.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1219
    Cell Significance Index: -35.0600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1249
    Cell Significance Index: -2.5900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1355
    Cell Significance Index: -15.5200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1546
    Cell Significance Index: -2.6500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2435
    Cell Significance Index: -18.1500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2640
    Cell Significance Index: -30.1400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3111
    Cell Significance Index: -10.8100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3142
    Cell Significance Index: -6.8800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3440
    Cell Significance Index: -35.8200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3484
    Cell Significance Index: -6.8000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4140
    Cell Significance Index: -32.7900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.5249
    Cell Significance Index: -4.2800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5417
    Cell Significance Index: -28.4400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5768
    Cell Significance Index: -18.4800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6297
    Cell Significance Index: -13.4100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6515
    Cell Significance Index: -39.9400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6958
    Cell Significance Index: -22.1600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.7029
    Cell Significance Index: -11.8400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7431
    Cell Significance Index: -24.3300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.7952
    Cell Significance Index: -11.7400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.8066
    Cell Significance Index: -17.1200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.8333
    Cell Significance Index: -12.3000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.8649
    Cell Significance Index: -31.7500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.8759
    Cell Significance Index: -30.6900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **SMAD4 structure**: SMAD4 is a transcriptional coactivator that consists of an MH2 domain, a MH1 domain, and a C-terminal domain. The MH2 domain is responsible for binding to TGF-β receptors, while the MH1 domain interacts with SMAD2 and SMAD3 to form a heterotrimeric complex. 2. **Expression patterns**: SMAD4 is expressed in various tissues, including the brain, heart, and lungs, and is also found in immune cells, such as T cells and macrophages. 3. **Protein interactions**: SMAD4 interacts with numerous proteins, including TGF-β receptors, SMAD2 and SMAD3, and other transcriptional coactivators. **Pathways and Functions:** 1. **TGF-β signaling pathway**: SMAD4 is a critical component of the TGF-β signaling pathway, which regulates cellular responses to growth factors, cytokines, and other signaling molecules. 2. **Cell proliferation and differentiation**: SMAD4 regulates cell proliferation and differentiation by modulating the expression of target genes involved in these processes. 3. **Immune responses**: SMAD4 plays a role in regulating immune responses, including the activation of T cells and the production of cytokines. 4. **Developmental biology**: SMAD4 is involved in various developmental processes, including gastrulation, branching morphogenesis, and cardiac development. 5. **Cancer**: SMAD4 is often mutated or deleted in various cancers, including colorectal, breast, and lung cancers. **Clinical Significance:** 1. **Cancer**: Mutations or deletions in SMAD4 are associated with an increased risk of developing certain cancers. 2. **Autoimmune diseases**: SMAD4 plays a role in regulating immune responses and may contribute to the development of autoimmune diseases, such as rheumatoid arthritis and lupus. 3. **Inflammatory disorders**: SMAD4 is involved in regulating inflammatory responses and may contribute to the development of inflammatory disorders, such as asthma and chronic obstructive pulmonary disease (COPD). 4. **Neurological disorders**: SMAD4 has been implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, and multiple sclerosis. In conclusion, SMAD4 is a critical gene involved in various biological processes, including development, cell proliferation, and signal transduction. Its dysregulation has been implicated in various diseases, including cancer, autoimmune diseases, inflammatory disorders, and neurological disorders. Further research is needed to fully understand the role of SMAD4 in these processes and to identify potential therapeutic targets for the treatment of these diseases.

Genular Protein ID: 59204840

Symbol: SMAD4_HUMAN

Name: Mothers against decapentaplegic homolog 4

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8553070

Title: DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1.

PubMed ID: 8553070

DOI: 10.1126/science.271.5247.350

PubMed ID: 8774881

Title: Receptor-associated Mad homologues synergize as effectors of the TGF-beta response.

PubMed ID: 8774881

DOI: 10.1038/383168a0

PubMed ID: 9098646

Title: Genomic sequencing of DPC4 in the analysis of familial pancreatic carcinoma.

PubMed ID: 9098646

DOI: 10.1097/00019606-199704000-00003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9389648

Title: Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes.

PubMed ID: 9389648

DOI: 10.1101/gad.11.23.3157

PubMed ID: 9670020

Title: Smad proteins exist as monomers in vivo and undergo homo- and hetero-oligomerization upon activation by serine/threonine kinase receptors.

PubMed ID: 9670020

DOI: 10.1093/emboj/17.14.4056

PubMed ID: 9707553

Title: Transcriptional activating activity of Smad4: roles of SMAD hetero-oligomerization and enhancement by an associating transactivator.

PubMed ID: 9707553

DOI: 10.1073/pnas.95.17.9785

PubMed ID: 10660046

Title: OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways.

PubMed ID: 10660046

DOI: 10.1016/s0092-8674(00)81561-5

PubMed ID: 10636916

Title: The Smad4 activation domain (SAD) is a proline-rich, p300-dependent transcriptional activation domain.

PubMed ID: 10636916

DOI: 10.1074/jbc.275.3.2115

PubMed ID: 11741830

Title: LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1.

PubMed ID: 11741830

DOI: 10.1093/hmg/10.25.2869

PubMed ID: 11818334

Title: Jab1 antagonizes TGF-beta signaling by inducing Smad4 degradation.

PubMed ID: 11818334

DOI: 10.1093/embo-reports/kvf024

PubMed ID: 12370310

Title: Identification of mZnf8, a mouse Kruppel-like transcriptional repressor, as a novel nuclear interaction partner of Smad1.

PubMed ID: 12370310

DOI: 10.1128/mcb.22.21.7633-7644.2002

PubMed ID: 12941698

Title: TLP, a novel modulator of TGF-beta signaling, has opposite effects on Smad2- and Smad3-dependent signaling.

PubMed ID: 12941698

DOI: 10.1093/emboj/cdg428

PubMed ID: 14525983

Title: DACH1 inhibits transforming growth factor-beta signaling through binding Smad4.

PubMed ID: 14525983

DOI: 10.1074/jbc.m310021200

PubMed ID: 14671321

Title: Homeoprotein DLX-1 interacts with Smad4 and blocks a signaling pathway from activin A in hematopoietic cells.

PubMed ID: 14671321

DOI: 10.1073/pnas.2536757100

PubMed ID: 14630787

Title: Early hematopoietic zinc finger protein (EHZF), the human homolog to mouse Evi3, is highly expressed in primitive human hematopoietic cells.

PubMed ID: 14630787

DOI: 10.1182/blood-2003-07-2388

PubMed ID: 15820681

Title: Germ-layer specification and control of cell growth by Ectodermin, a Smad4 ubiquitin ligase.

PubMed ID: 15820681

DOI: 10.1016/j.cell.2005.01.033

PubMed ID: 15799969

Title: Nuclear targeting of transforming growth factor-beta-activated Smad complexes.

PubMed ID: 15799969

DOI: 10.1074/jbc.m500362200

PubMed ID: 15881652

Title: Tsc-22 enhances TGF-beta signaling by associating with Smad4 and induces erythroid cell differentiation.

PubMed ID: 15881652

DOI: 10.1007/s11010-005-3456-7

PubMed ID: 16777850

Title: The novel PIAS-like protein hZimp10 enhances Smad transcriptional activity.

PubMed ID: 16777850

DOI: 10.1074/jbc.m508365200

PubMed ID: 17099224

Title: Potentiation of Smad-mediated transcriptional activation by the RNA-binding protein RBPMS.

PubMed ID: 17099224

DOI: 10.1093/nar/gkl914

PubMed ID: 17327236

Title: 3-Phosphoinositide-dependent PDK1 negatively regulates transforming growth factor-beta-induced signaling in a kinase-dependent manner through physical interaction with Smad proteins.

PubMed ID: 17327236

DOI: 10.1074/jbc.m609279200

PubMed ID: 18568018

Title: TAZ controls Smad nucleocytoplasmic shuttling and regulates human embryonic stem-cell self-renewal.

PubMed ID: 18568018

DOI: 10.1038/ncb1748

PubMed ID: 19135894

Title: FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination.

PubMed ID: 19135894

DOI: 10.1016/j.cell.2008.10.051

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21898662

Title: Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.

PubMed ID: 21898662

DOI: 10.1002/humu.21605

PubMed ID: 24324267

Title: Zinc finger protein 451 is a novel Smad corepressor in transforming growth factor-beta signaling.

PubMed ID: 24324267

DOI: 10.1074/jbc.m113.526905

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 25310401

Title: Sustained induction of collagen synthesis by TGF-beta requires regulated intramembrane proteolysis of CREB3L1.

PubMed ID: 25310401

DOI: 10.1371/journal.pone.0108528

PubMed ID: 25514493

Title: Pokemon (FBI-1) interacts with Smad4 to repress TGF-beta-induced transcriptional responses.

PubMed ID: 25514493

DOI: 10.1016/j.bbagrm.2014.12.008

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.o114.044792

PubMed ID: 26878725

Title: Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.

PubMed ID: 26878725

DOI: 10.1038/ng.3512

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 9214508

Title: A structural basis for mutational inactivation of the tumour suppressor Smad4.

PubMed ID: 9214508

DOI: 10.1038/40431

PubMed ID: 10647180

Title: Crystal structure of a transcriptionally active Smad4 fragment.

PubMed ID: 10647180

DOI: 10.1016/s0969-2126(00)88340-9

PubMed ID: 11224571

Title: The L3 loop and C-terminal phosphorylation jointly define Smad protein trimerization.

PubMed ID: 11224571

DOI: 10.1038/84995

PubMed ID: 15350224

Title: Structural basis of heteromeric smad protein assembly in TGF-beta signaling.

PubMed ID: 15350224

DOI: 10.1016/j.molcel.2004.07.016

PubMed ID: 9811934

Title: Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

PubMed ID: 9811934

DOI: 10.1093/hmg/7.12.1907

PubMed ID: 12417513

Title: Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

PubMed ID: 12417513

DOI: 10.1007/bf02557528

PubMed ID: 15031030

Title: A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

PubMed ID: 15031030

DOI: 10.1016/s0140-6736(04)15732-2

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 22243968

Title: A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

PubMed ID: 22243968

DOI: 10.1016/j.ajhg.2011.12.011

PubMed ID: 22158539

Title: Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

PubMed ID: 22158539

DOI: 10.1038/ng.1016

Sequence Information:

  • Length: 552
  • Mass: 60439
  • Checksum: 7EE3C4647712DA90
  • Sequence:
  • MDNMSITNTP TSNDACLSIV HSLMCHRQGG ESETFAKRAI ESLVKKLKEK KDELDSLITA 
    ITTNGAHPSK CVTIQRTLDG RLQVAGRKGF PHVIYARLWR WPDLHKNELK HVKYCQYAFD 
    LKCDSVCVNP YHYERVVSPG IDLSGLTLQS NAPSSMMVKD EYVHDFEGQP SLSTEGHSIQ 
    TIQHPPSNRA STETYSTPAL LAPSESNATS TANFPNIPVA STSQPASILG GSHSEGLLQI 
    ASGPQPGQQQ NGFTGQPATY HHNSTTTWTG SRTAPYTPNL PHHQNGHLQH HPPMPPHPGH 
    YWPVHNELAF QPPISNHPAP EYWCSIAYFE MDVQVGETFK VPSSCPIVTV DGYVDPSGGD 
    RFCLGQLSNV HRTEAIERAR LHIGKGVQLE CKGEGDVWVR CLSDHAVFVQ SYYLDREAGR 
    APGDAVHKIY PSAYIKVFDL RQCHRQMQQQ AATAQAAAAA QAAAVAGNIP GPGSVGGIAP 
    AISLSAAAGI GVDDLRRLCI LRMSFVKGWG PDYPRQSIKE TPCWIEIHLH RALQLLDEVL 
    HTMPIADPQP LD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.